Požymis
Delayed ability to walk
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Santrauka
- Taip pat vadinama
- Delayed walking
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Delayed ability to walk, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test366 genų susiję su Delayed ability to walk
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Delayed ability to walk. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Visada | 1 ligoje |
| ADARB1adenosine deaminase RNA specific B1 | Visada | 1 ligoje |
| ADCY5adenylate cyclase 5 | Visada | 2 ligose |
| AGO1argonaute RISC component 1 | Visada | 1 ligoje |
| AMPD2adenosine monophosphate deaminase 2 | Visada | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Visada | 1 ligoje |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Visada | 1 ligoje |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ARL13BARF like GTPase 13B | Visada | 1 ligoje |
| ATG5autophagy related 5 | Visada | 1 ligoje |
| ATG7autophagy related 7 | Visada | 1 ligoje |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Visada | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Visada | 1 ligoje |
| BCL11ABCL11 transcription factor A | Visada | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Visada | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Visada | 1 ligoje |
| CCT3chaperonin containing TCP1 subunit 3 | Visada | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Visada | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Visada | 1 ligoje |
| CFL2cofilin 2 | Visada | 1 ligoje |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Visada | 1 ligoje |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Visada | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Visada | 1 ligoje |
| CLDN11claudin 11 | Visada | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Visada | 1 ligoje |
| COL4A2collagen type IV alpha 2 chain | Visada | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Visada | 1 ligoje |
| COPB1coat protein complex I subunit beta 1 | Visada | 1 ligoje |
| CPLX1complexin 1 | Visada | 1 ligoje |
| CSNK2A1casein kinase 2 alpha 1 | Visada | 1 ligoje |
| CUL3cullin 3 | Visada | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| DCPSdecapping enzyme, scavenger | Visada | 1 ligoje |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Visada | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Visada | 1 ligoje |
| DOCK3dedicator of cytokinesis 3 | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Visada | 1 ligoje |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Visada | 1 ligoje |
Rodyti dar 326 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DPYSL5dihydropyrimidinase like 5 | Visada | 1 ligoje |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Visada | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Visada | 1 ligoje |
| EXOC6Bexocyst complex component 6B | Visada | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FBXL3F-box and leucine rich repeat protein 3 | Visada | 1 ligoje |
| FEM1Bfem-1 homolog B | Visada | 1 ligoje |
| FITM2fat storage inducing transmembrane protein 2 | Visada | 1 ligoje |
| FKBP14FKBP prolyl isomerase 14 | Visada | 1 ligoje |
| FOXG1forkhead box G1 | Visada | 1 ligoje |
| FOXP1forkhead box P1 | Visada | 1 ligoje |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Visada | 1 ligoje |
| GARS1glycyl-tRNA synthetase 1 | Visada | 1 ligoje |
| GATMglycine amidinotransferase | Visada | 1 ligoje |
| GET4guided entry of tail-anchored proteins factor 4 | Visada | 1 ligoje |
| GNAI1G protein subunit alpha i1 | Visada | 1 ligoje |
| GTF2H4general transcription factor IIH subunit 4 | Visada | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Visada | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Visada | 1 ligoje |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| IFT27intraflagellar transport 27 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| JPH1junctophilin 1 | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Visada | 1 ligoje |
| KLHL15kelch like family member 15 | Visada | 1 ligoje |
| KPNA3karyopherin subunit alpha 3 | Visada | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Visada | 1 ligoje |
| LMNAlamin A/C | Visada | 1 ligoje |
| LMNB1lamin B1 | Visada | 1 ligoje |
| LMNB2lamin B2 | Visada | 1 ligoje |
| LRRC32leucine rich repeat containing 32 | Visada | 1 ligoje |
| MAN2B2mannosidase alpha class 2B member 2 | Visada | 1 ligoje |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 2 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Visada | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Visada | 1 ligoje |
| MPZmyelin protein zero | Visada | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Visada | 1 ligoje |
| MRPS14mitochondrial ribosomal protein S14 | Visada | 1 ligoje |
| MRPS25mitochondrial ribosomal protein S25 | Visada | 1 ligoje |
| MSL3MSL complex subunit 3 | Visada | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Visada | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Visada | 2 ligose |
| NCDNneurochondrin | Visada | 1 ligoje |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Visada | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Visada | 1 ligoje |
| NFU1NFU1 iron-sulfur cluster scaffold | Visada | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Visada | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| NUDT2nudix hydrolase 2 | Visada | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Visada | 1 ligoje |
| OTUD7AOTU deubiquitinase 7A | Visada | 1 ligoje |
| PAK3p21 (RAC1) activated kinase 3 | Visada | 1 ligoje |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Visada | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Visada | 1 ligoje |
| PHEXphosphate regulating endopeptidase X-linked | Visada | 2 ligose |
| PIGCphosphatidylinositol glycan anchor biosynthesis class C | Visada | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Visada | 1 ligoje |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Visada | 1 ligoje |
| PMPCApeptidase, mitochondrial processing subunit alpha | Visada | 2 ligose |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| POMKprotein O-mannose kinase | Visada | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Visada | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Visada | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Visada | 1 ligoje |
| RAB11BRAB11B, member RAS oncogene family | Visada | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| RAD51RAD51 recombinase | Visada | 1 ligoje |
| RBL2RB transcriptional corepressor like 2 | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RNU12RNA, U12 small nuclear | Visada | 1 ligoje |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| ROGDIrogdi atypical leucine zipper | Visada | 1 ligoje |
| RUBCNrubicon autophagy regulator | Visada | 1 ligoje |
| RYR1ryanodine receptor 1 | Visada | 2 ligose |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Visada | 1 ligoje |
| SETD5SET domain containing 5 | Visada | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Visada | 1 ligoje |
| SHMT2serine hydroxymethyltransferase 2 | Visada | 1 ligoje |
| SKOR2SKI family transcriptional corepressor 2 | Visada | 1 ligoje |
| SLC18A2solute carrier family 18 member A2 | Visada | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Visada | 1 ligoje |
| SLC25A42solute carrier family 25 member 42 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 1 ligoje |
| SLC5A7solute carrier family 5 member 7 | Visada | 1 ligoje |
| SLC9A1solute carrier family 9 member A1 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 1 ligoje |
| SNAP25synaptosome associated protein 25 | Visada | 1 ligoje |
| SONSON DNA and RNA binding protein | Visada | 1 ligoje |
| SPTSSAserine palmitoyltransferase small subunit A | Visada | 2 ligose |
| SRCAPSnf2 related CREBBP activator protein | Visada | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Visada | 2 ligose |
| SYT1synaptotagmin 1 | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TCF20transcription factor 20 | Visada | 1 ligoje |
| TFGtrafficking from ER to golgi regulator | Visada | 1 ligoje |
| TGthyroglobulin | Visada | 1 ligoje |
| TIMM50translocase of inner mitochondrial membrane 50 | Visada | 2 ligose |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TMEM147transmembrane protein 147 | Visada | 1 ligoje |
| TMEM163transmembrane protein 163 | Visada | 1 ligoje |
| TMEM222transmembrane protein 222 | Visada | 1 ligoje |
| TMEM63Atransmembrane protein 63A | Visada | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Visada | 1 ligoje |
| TRAPPC10trafficking protein particle complex subunit 10 | Visada | 1 ligoje |
| TRIM2tripartite motif containing 2 | Visada | 1 ligoje |
| TRIM8tripartite motif containing 8 | Visada | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Visada | 2 ligose |
| TRIT1tRNA isopentenyltransferase 1 | Visada | 1 ligoje |
| TRMT1tRNA methyltransferase 1 | Visada | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Visada | 1 ligoje |
| TTI2TELO2 interacting protein 2 | Visada | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Visada | 2 ligose |
| UNC13Aunc-13 homolog A | Visada | 2 ligose |
| VLDLRvery low density lipoprotein receptor | Visada | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Visada | 1 ligoje |
| WASF1WASP family member 1 | Visada | 1 ligoje |
| WASHC4WASH complex subunit 4 | Visada | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| ZNF148zinc finger protein 148 | Visada | 1 ligoje |
| ZNF407zinc finger protein 407 | Visada | 1 ligoje |
| ABCB7ATP binding cassette subfamily B member 7 | Labai dažnai (80–99%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Labai dažnai (80–99%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Labai dažnai (80–99%) | 2 ligose |
| ARID1BAT-rich interaction domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Labai dažnai (80–99%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL6A3collagen type VI alpha 3 chain | Labai dažnai (80–99%) | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| FTH1ferritin heavy chain 1 | Labai dažnai (80–99%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| H3-3AH3.3 histone A | Labai dažnai (80–99%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Labai dažnai (80–99%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Labai dažnai (80–99%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Labai dažnai (80–99%) | 1 ligoje |
| MACF1microtubule actin crosslinking factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Labai dažnai (80–99%) | 1 ligoje |
| NAV3neuron navigator 3 | Labai dažnai (80–99%) | 1 ligoje |
| NDC1NDC1 transmembrane nucleoporin | Labai dažnai (80–99%) | 1 ligoje |
| PLP1proteolipid protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Labai dažnai (80–99%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Labai dažnai (80–99%) | 2 ligose |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Labai dažnai (80–99%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Labai dažnai (80–99%) | 1 ligoje |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Labai dažnai (80–99%) | 1 ligoje |
| TTI1TELO2 interacting protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Labai dažnai (80–99%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Labai dažnai (80–99%) | 1 ligoje |
| ADGRL1adhesion G protein-coupled receptor L1 | Dažnai (30–79%) | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Dažnai (30–79%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Dažnai (30–79%) | 1 ligoje |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Dažnai (30–79%) | 1 ligoje |
| ATP10AATPase phospholipid transporting 10A (putative) | Dažnai (30–79%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Dažnai (30–79%) | 1 ligoje |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Dažnai (30–79%) | 1 ligoje |
| BSNDbarttin CLCNK type accessory subunit beta | Dažnai (30–79%) | 1 ligoje |
| CCDC134coiled-coil domain containing 134 | Dažnai (30–79%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Dažnai (30–79%) | 1 ligoje |
| CHMP1Acharged multivesicular body protein 1A | Dažnai (30–79%) | 1 ligoje |
| CLCNKAchloride voltage-gated channel Ka | Dažnai (30–79%) | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Dažnai (30–79%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Dažnai (30–79%) | 1 ligoje |
| COASYCoenzyme A synthase | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| CRBNcereblon | Dažnai (30–79%) | 1 ligoje |
| CSNK2Bcasein kinase 2 beta | Dažnai (30–79%) | 1 ligoje |
| CTCFCCCTC-binding factor | Dažnai (30–79%) | 1 ligoje |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Dažnai (30–79%) | 1 ligoje |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Dažnai (30–79%) | 1 ligoje |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Dažnai (30–79%) | 1 ligoje |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 1 ligoje |
| DHPSdeoxyhypusine synthase | Dažnai (30–79%) | 1 ligoje |
| DLATdihydrolipoamide S-acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Dažnai (30–79%) | 1 ligoje |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Dažnai (30–79%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Dažnai (30–79%) | 1 ligoje |
| FBLN1fibulin 1 | Dažnai (30–79%) | 1 ligoje |
| FBXO11F-box protein 11 | Dažnai (30–79%) | 1 ligoje |
| FRMPD4FERM and PDZ domain containing 4 | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 1 ligoje |
| GPRC5BG protein-coupled receptor class C group 5 member B | Dažnai (30–79%) | 1 ligoje |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Dažnai (30–79%) | 1 ligoje |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 2 ligose |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Dažnai (30–79%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Dažnai (30–79%) | 1 ligoje |
| KDM6Blysine demethylase 6B | Dažnai (30–79%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Dažnai (30–79%) | 1 ligoje |
| KLHL20kelch like family member 20 | Dažnai (30–79%) | 1 ligoje |
| KPTNkaptin, actin binding protein | Dažnai (30–79%) | 1 ligoje |
| LBRlamin B receptor | Dažnai (30–79%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Dažnai (30–79%) | 1 ligoje |
| MCM3APminichromosome maintenance complex component 3 associated protein | Dažnai (30–79%) | 1 ligoje |
| NBEAneurobeachin | Dažnai (30–79%) | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| NOTCH3notch receptor 3 | Dažnai (30–79%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Dažnai (30–79%) | 1 ligoje |
| PGM2L1phosphoglucomutase 2 like 1 | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Dažnai (30–79%) | 1 ligoje |
| POLR3BRNA polymerase III subunit B | Dažnai (30–79%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Dažnai (30–79%) | 1 ligoje |
| RALARAS like proto-oncogene A | Dažnai (30–79%) | 1 ligoje |
| RETREG1reticulophagy regulator 1 | Dažnai (30–79%) | 1 ligoje |
| RORARAR related orphan receptor A | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 1 ligoje |
| RYR3ryanodine receptor 3 | Dažnai (30–79%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 1 ligoje |
| SEMA6Bsemaphorin 6B | Dažnai (30–79%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Dažnai (30–79%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Dažnai (30–79%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| SOX4SRY-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Dažnai (30–79%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 2 ligose |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SRRM2serine/arginine repetitive matrix 2 | Dažnai (30–79%) | 1 ligoje |
| TANGO2transport and golgi organization 2 homolog | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Dažnai (30–79%) | 1 ligoje |
| WDR26WD repeat domain 26 | Dažnai (30–79%) | 2 ligose |
| WDR45WD repeat domain 45 | Dažnai (30–79%) | 1 ligoje |
| WDR81WD repeat domain 81 | Dažnai (30–79%) | 1 ligoje |
| YY1YY1 transcription factor | Dažnai (30–79%) | 1 ligoje |
| ZBTB11zinc finger and BTB domain containing 11 | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Dažnai (30–79%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| AMNamnion associated transmembrane protein | Kartais (5–29%) | 1 ligoje |
| CADM3cell adhesion molecule 3 | Kartais (5–29%) | 1 ligoje |
| CUBNcubilin | Kartais (5–29%) | 1 ligoje |
| DOLKdolichol kinase | Kartais (5–29%) | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| HK1hexokinase 1 | Kartais (5–29%) | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| KDM3Blysine demethylase 3B | Kartais (5–29%) | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MID1midline 1 | Kartais (5–29%) | 1 ligoje |
| MTPAPmitochondrial poly(A) polymerase | Kartais (5–29%) | 1 ligoje |
| OPHN1oligophrenin 1 | Kartais (5–29%) | 1 ligoje |
| RTN2reticulon 2 | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SCAF4SR-related CTD associated factor 4 | Kartais (5–29%) | 1 ligoje |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| TNPO3transportin 3 | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Retai (1–4 %) | 1 ligoje |
| ACTN2actinin alpha 2 | Neužfiksuota | 1 ligoje |
| AHI1Abelson helper integration site 1 | Neužfiksuota | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Neužfiksuota | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Neužfiksuota | 1 ligoje |
| BCL11BBCL11 transcription factor B | Neužfiksuota | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Neužfiksuota | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Neužfiksuota | 1 ligoje |
| CHD3chromodomain helicase DNA binding protein 3 | Neužfiksuota | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| DHX30DExH-box helicase 30 | Neužfiksuota | 1 ligoje |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Neužfiksuota | 1 ligoje |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Neužfiksuota | 1 ligoje |
| EBF3EBF transcription factor 3 | Neužfiksuota | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Neužfiksuota | 1 ligoje |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Neužfiksuota | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| KDM5Blysine demethylase 5B | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| LSSlanosterol synthase | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MYO9Amyosin IXA | Neužfiksuota | 1 ligoje |
| NFASCneurofascin | Neužfiksuota | 1 ligoje |
| PAK1p21 (RAC1) activated kinase 1 | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| POLR2ARNA polymerase II subunit A | Neužfiksuota | 1 ligoje |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PUS7pseudouridine synthase 7 | Neužfiksuota | 1 ligoje |
| RUSC2RUN and SH3 domain containing 2 | Neužfiksuota | 1 ligoje |
| SETSET nuclear proto-oncogene | Neužfiksuota | 1 ligoje |
| SLC12A2solute carrier family 12 member 2 | Neužfiksuota | 1 ligoje |
| SLC25A1solute carrier family 25 member 1 | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| TBR1T-box brain transcription factor 1 | Neužfiksuota | 1 ligoje |
| TMEM94transmembrane protein 94 | Neužfiksuota | 1 ligoje |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Neužfiksuota | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 ligoje |
| ZSWIM6zinc finger SWIM-type containing 6 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites